{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T08:02:40Z","timestamp":1779782560076,"version":"3.53.1"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T00:00:00Z","timestamp":1771286400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T00:00:00Z","timestamp":1771286400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    3MC syndrome is a rare congenital malformation disorder caused by biallelic pathogenic variants in\n                    <jats:italic>COLEC10<\/jats:italic>\n                    ,\n                    <jats:italic>COLEC11<\/jats:italic>\n                    , and\n                    <jats:italic>MASP1<\/jats:italic>\n                    . It is characterized by distinctive craniofacial anomalies, growth retardation, developmental delay, and variable systemic findings. Here, we report seven previously unreported patients with 3MC syndrome from five unrelated families. The cohort included five females and two males, aged 1\u201310\u2009years. All patients exhibited characteristic craniofacial features, including hypertelorism, blepharoptosis, highly arched eyebrows, and epicanthus inversus. Cleft lip and\/or palate were present in six patients, caudal appendage in four, congenital heart disease in two, hearing loss in four, and periumbilical anomalies in six. All patients showed neuromotor developmental delay. Molecular analysis identified novel pathogenic variants in\n                    <jats:italic>COLEC10<\/jats:italic>\n                    in five patients and pathogenic alterations in\n                    <jats:italic>MASP1<\/jats:italic>\n                    in two patients, including an exon\u2010level deletion. These findings expand the clinical and molecular spectrum of 3MC syndrome and highlight the value of comprehensive molecular testing in its diagnosis.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70087","type":"journal-article","created":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T05:25:20Z","timestamp":1771392320000},"page":"1347-1352","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expansion of the\n                    <scp>3MC<\/scp>\n                    Syndrome Spectrum: Novel\n                    <i>COLEC10<\/i>\n                    Variants and a\n                    <i>MASP1<\/i>\n                    Exon\u2010Level Deletion"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-0499-7207","authenticated-orcid":false,"given":"Duygu","family":"\u00c7etinkaya","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics University of Health Sciences, Ankara Bilkent City Hospital  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0953-6210","authenticated-orcid":false,"given":"B\u00fc\u015franur","family":"\u00c7avdarl\u0131","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medicine, Ankara Y\u0131ldirim Beyaz\u0131t University, Ankara Bilkent City Hospital  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emre","family":"K\u0131rat","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Bursa City Hospital  Bursa Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0522-1809","authenticated-orcid":false,"given":"Esra","family":"K\u0131l\u0131\u00e7","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics University of Health Sciences, Ankara Bilkent City Hospital  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,2,17]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000443"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2016.03.022"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-1771"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2015.12.019"},{"key":"e_1_2_12_6_1","volume-title":"Smith's Recognizable Patterns of Human Malformation\u2010E\u2010Book","author":"Jones K. L.","year":"2021"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1348-0421.2006.tb03868.x"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104374"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1834"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006679"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62943"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.757"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.09.018"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30878"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37564"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70087","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70087","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70087","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T07:10:19Z","timestamp":1779779419000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70087"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,17]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1002\/ajmg.a.70087"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70087","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,17]]},"assertion":[{"value":"2025-06-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}